Figure 6.

MED12-variant positive uterine leiomyomas are not monoclonal. (A) Integrative Genome Viewer (IGV) analysis shows the presence of only wild-type MED12 allele in the myometrium (A.1) and the presence of both the variant and wild-type codon at c.131 in the MED12-variant positive leiomyomas (A.2 and A.3) in single-cell RNA sequencing data. The column med12 Bam alignment coverage shows the summary of the variant and wild-type allele detected at the c.131 location on MED12. The column MED12 alignment shows a snapshot of a small part of the data alignment track used to visualize individual MED12 aligned reads. (B) Uniform Manifold Approximation and Projection on Principal (UMAP) components of the mesenchymal cell populations in the leiomyomas. (C) UMAP showing the presence of the mutant MED12 variant (colored dots) and the wild-type MED12 (black dots) in SMCs, fibroblasts and endothelial cells.